Treacher Collins syndrome is a genetic condition that leads to problems with the structure of the face. Most cases are not passed down through families.
Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome
Changes to one of three genes, TCOF1, POLR1C, or POLR1D, can lead to Treacher Collins syndrome. The condition can be passed down through families (inherited). However, most of the time, there is not another affected family member.
This condition may vary in severity from generation to generation and from person to person.
Symptoms may include:
Hearing loss is treated to ensure better performance in school.
Being followed by a plastic surgeon is very important, because children with this condition may need a series of operations to correct birth defects. Plastic surgery can correct the receding chin and other changes in face structure.
Jesse Taylor is a Plastic Surgeon in Chalfont, Pennsylvania. Taylor has been practicing medicine for over 23 years and is rated as an Elite expert by MediFind in the treatment of Treacher Collins Syndrome. He is also highly rated in 23 other conditions, according to our data. His top areas of expertise are Craniosynostosis, Crouzon Syndrome, Acrofacial Dysostosis Rodriguez Type, Bone Graft, and Posterior Fossa Decompression. He is licensed to treat patients in Pennsylvania. Taylor is currently accepting new patients.
Scott Bartlett is a Plastic Surgeon in Philadelphia, Pennsylvania. Bartlett has been practicing medicine for over 48 years and is rated as an Elite expert by MediFind in the treatment of Treacher Collins Syndrome. He is also highly rated in 19 other conditions, according to our data. His top areas of expertise are Craniosynostosis, Syndactyly, Apert Syndrome, Saethre-Chotzen Syndrome, and Bone Graft. He is licensed to treat patients in Pennsylvania. Bartlett is currently accepting new patients.
Jeanne Amiel practices in Paris, France. Amiel is rated as an Elite expert by MediFind in the treatment of Treacher Collins Syndrome. She is also highly rated in 65 other conditions, according to our data. Her top areas of expertise are Micrognathia, Hirschsprung Disease, Treacher Collins Syndrome, and Acrofacial Dysostosis Rodriguez Type.
FACES: The National Craniofacial Association -- www.faces-cranio.org/
Children with this syndrome typically grow to become functioning adults of normal intelligence.
Complications may include:
This condition is most often seen at birth.
Genetic counseling can help families understand the condition and how to care for the person.
Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.
Summary: The aim of this study is to evaluate the comparison of therapeutic potential of curcumin preconditioned adipose derived stem cells (ASCs) enrichment fat grafting, naïve ASCs enrichment fat grafting and conventional fat grafting to correct facial contour deformities that cause aesthetic complications in patients.
Summary: This study will address medical devices manufactured by Biomet Microfixation (d.b.a. Zimmer Biomet) designed for fixation and stabilization of the facial and mandibular skeleton.
Published Date: July 30, 2021
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Dhar V. Syndromes with oral manifestations. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 337.
Katsanis SH, Jabs EW, Adam MP, et al. Treacher Collins syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2022. PMID: 20301704 pubmed.ncbi.nlm.nih.gov/20301704/. Updated August 20, 2020. Accessed November 1, 2021.
Posnick JC, Tiwana PS, Panchal NH. Treacher Collins syndrome: evaluation and treatment. In: Fonseca RJ, ed. Oral and Maxillofacial Surgery. 3rd ed. St Louis, MO: Elsevier; 2018:chap 40.